- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. (PMID:769701)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: PCS. (PMID:7707811)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: PCS. (PMID:7707811)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. (PMID:7707811)
- Disseminated cryptosporidium infection (HP:0031699): Disseminated infection with Cryptosporidium species, involving organs beyond the gastrointestinal tract such as the biliary tree, respiratory tract, or pancreas. Evidence: PCS. (PMID:7707811)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:614372)
- Recurrent Klebsiella infection (HP:0002742): Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection. Evidence: PCS. (PMID:7707811)
These phenotypes are associated with the disease mannose-binding lectin deficiency (OMIM:614372).